Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA
gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life …

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid
metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic …

Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA
mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal …

Introduction Fabry disease (FD) is a lysosomal storage disorder resulting in progressive
nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or …

Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease
and cardiovascular disease. The availability of specific but costly therapy has elevated the …

Purpose: To evaluate life expectancy and cause of death among patients with Fabry
disease, an X-linked lysosomal storage disorder. Methods: Data from 2848 patients in the …

The effect of early-onset enzyme replacement therapy on renal morphologic features in
Fabry disease is largely unknown. Here, we evaluated the effect of 5 years of treatment with …

Background: Fabry disease is a rare X-linked lysosomal storage disorder characterised by
severe multisystemic involvement that leads to major organ failure and premature death in …

Objective The long‐term effects of enzyme‐replacement therapy (ERT) in Fabry disease are
unknown. Thus, the aim of this study was to determine whether ERT in patients with …

Background We analysed 5-year treatment with agalsidase alfa enzyme replacement
therapy in patients with Fabry's disease who were enrolled in the Fabry Outcome Survey …